Article
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Human mutation - 1 Nov 2013
Mackay Donna S, Borman Arundhati Dev, Sui Ruifang, van den Born L Ingeborgh, Berson Eliot L, Ocaka Louise A, Davidson Alice E, Heckenlively John R, Branham Kari, Ren Huanan, Lopez Irma, Maria Maleeha, Azam Maleeha, Henkes Arjen, Blokland Ellen, Qamar Raheel, Webster Andrew R, Cremers Frans P M, Moore Anthony T, Koenekoop Robert K, Andreasson Sten, de Baere Elfride, Bennett Jean, Chader Gerald J, Berger Wolfgang, Golovleva Irina, Greenberg Jacquie, den Hollander Anneke I, Klaver Caroline C W, Klevering B Jeroen, Lorenz Birgit, Preising Markus N, Ramsear Raj, Roberts Lisa, Roepman Ronald, Rohrschneider Klaus, Wissinger Bernd
Abstract excerpt
This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis (LCA), early-onset retinal dystrophy (EORD), and autosomal recessive retinitis pigmentosa (arRP); to delineate the ocular phenotypes; and to provide an overview of all published LCA5 variants in an online database. Patients underwent standard ophthalmic evaluations after providing...
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